esv3976560
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,500
- Publication(s):Fakhro et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 447 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3976560 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,062,390 |
| esv3976560 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 155,475,901 | 155,489,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25941019 | deletion | DGMQ-32293 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,587 |
| essv25954030 | deletion | DGMQ-31639 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,641 |
| essv25957451 | deletion | DGMQ-32287 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,502 |
| essv25960869 | deletion | DGMQ-31711 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,479 |
| essv25972931 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,534 |
| essv25976366 | deletion | DGMQ-31623 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,664 |
| essv25990472 | deletion | DGMQ-32148 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,526 |
| essv25992283 | deletion | DGMQ-31449 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,630 |
| essv26007948 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv26016847 | deletion | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,679 |
| essv26021971 | deletion | DGMQ-32302 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,531 |
| essv25946263 | deletion | DGMQ-31030 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,644 |
| essv25952197 | deletion | DGMQ-31131 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,468 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25941019 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25954030 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25957451 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25960869 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25972931 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25976366 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25990472 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25992283 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv26007948 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv26016847 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv26021971 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,061,940 |
| essv25946263 | Remapped | Perfect | NC_000005.10:g.(15 6048891_?)_(?_1560 62390)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,048,891 | 156,062,390 |
| essv25952197 | Remapped | Perfect | NC_000005.10:g.(15 6049341_?)_(?_1560 61940)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 156,049,341 | 156,061,940 |
| essv25941019 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25954030 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25957451 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25960869 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25972931 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25976366 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25990472 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25992283 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv26007948 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv26016847 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv26021971 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,488,950 | ||
| essv25946263 | Submitted genomic | NC_000005.9:g.(155 475901_?)_(?_15548 9400)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,475,901 | 155,489,400 | ||
| essv25952197 | Submitted genomic | NC_000005.9:g.(155 476351_?)_(?_15548 8950)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,476,351 | 155,488,950 |